title: Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients.
abstract: In this study, we have identified and evaluated the cardiovascular anomalies associated with Williams-Beuren syndrome in children.In a retrospective, lineal, and observational study, we reviewed the files of children who were seen from 1980 through 2005 (25 years) after a clinical diagnosis of Williams-Beuren syndrome.Forty children were diagnosed with this syndrome at the National Institute of Pediatrics in Mexico City. Of these, 32 (80%) were found to have congenital heart defects. The male-to-female ratio was 1.3:1 and ages ranged from 6 months to 15 years (mean, 4.4 years) at the time of diagnosis. All of the patients had morphologic and genetic characteristics typical of the syndrome.We emphasize the cardiovascular aspects from a clinical point of view. Supravalvular aortic stenosis was our most frequent finding, in 18 of 32 patients (56%); gradient differences in these patients ranged from 14 to 81 mmHg. Five patients showed combined lesions, the most frequent being supravalvular aortic stenosis in combination with pulmonary artery brachial stenosis, or with atrial and ventricular defects. Patients with incomplete atrioventricular defect and bicuspid aortic valve, as were seen at our hospital, have not to our knowledge been reported in other studies.One of the patients was scheduled for balloon dilation; another was scheduled for surgery; a 3rd patient was operated on twice for the placement of an aorto-aortic bridge; another underwent ventricular septal defect closure; and yet another underwent aortoplasty, this last dying shortly after surgery.
authors.affiliation: Department of Cardiology, National Institute of Pediatrics, Mexico City, D.F. Mexico. derubens@hotmail.com
authors.forename: Jesús
authors.initials: J
authors.lastname: De Rubens Figueroa
authors.forename: Luz María Olivares
authors.initials: LM
authors.lastname: Rodríguez
authors.forename: José Luis Pablos
authors.initials: JL
authors.lastname: Hach
authors.forename: Victoria
authors.initials: V
authors.lastname: Del Castillo Ruíz
authors.forename: Héctor Osnaya
authors.initials: HO
authors.lastname: Martínez
mesh_terms: D000293:Adolescent; D021921:Aortic Stenosis, Supravalvular / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D001021:Aortic Valve / Q000002:abnormalities; D001027:Aortography; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003251:Constriction, Pathologic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D003431:Cross-Cultural Comparison; D003430:Cross-Sectional Studies; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D006343:Heart Septal Defects / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D008800:Mexico; D011651:Pulmonary Artery / Q000002:abnormalities; D012189:Retrospective Studies; D018980:Williams Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000601:surgery